2024年12月25日 · TGFBR1 (Transforming Growth Factor Beta Receptor 1) is a Protein Coding gene. Diseases associated with TGFBR1 include Multiple Self-Healing Squamous Epithelioma and Loeys-Dietz Syndrome 1. Among its related pathways are Apoptotic Pathways in Synovial Fibroblasts and Loss of Function of TGFBR2 in Cancer.

Transforming growth factor beta receptor I (activin A receptor type II-like kinase, 53kDa) is a membrane-bound TGF beta receptor protein of the TGF-beta receptor family for the TGF beta superfamily of signaling ligands. TGFBR1 is its human gene.

The TGFBR1 gene provides instructions for making a protein called transforming growth factor-beta (TGF-β) receptor type 1. This receptor transmits signals from the cell surface into the cell through a process called signal transduction.

TGF-β的命名是根据这种细胞因子能使正常的成纤维细胞的表型发生转化，即在表皮生长因子（EGF）同时存在的条件下，改变成纤维细胞贴壁生长特性而获得在琼脂中生长的能力，并失去生长中密度信赖的抑制作用而来。 TGF-β信号在早期胚胎发育与组织器官形成、免疫监督、组织修复与成体稳态平衡中发挥重要作用。 TGF-β信号转导异常则可能导致多种疾病的发生，比如胚胎发育异常、肿瘤、组织纤维化、心血管疾病和免疫性疾病等。

High TGFBR1 expression is associated with epithelialtomesenchymal transition and metastasis in breast cancer. polymorphism of TGFBR1 rs334348 may act as a potentially independent factor and novel genetic biomarker to predict oral cancer disease-specific survival especially for patients with radiotherapy

2011年10月20日 · We identified a novel role for a TGFβ receptor (called TGFBR1) in female fertility. We demonstrated that female mice with disruption of Tgfbr1 in the reproductive tract are unable to successfully conceive, although they can ovulate and produce fertilizable oocytes.

TGFB1 regulates cell cycle progression by a unique signaling mechanism that involves its binding to TGFBR2 and activation of TGFBR1. Both are transmembrane serine/threonine receptor kinases. The TGFBR1 receptor may be inactivated in many of the cases of human tumor cells refractory to TGFB-mediated cell cycle arrest.

由该基因编码的蛋白质在与 TGF-β 结合时与 II 型 TGF-β 受体形成异聚复合物，将 TGF-β 信号从细胞表面转导至细胞质。 编码的蛋白质是丝氨酸/苏氨酸蛋白激酶。 该基因的突变与 Loeys-Dietz 主动脉瘤综合征 (LDAS) 有关。 已发现该基因编码不同异构体的多个转录变体。 [RefSeq 提 …

2025年1月4日 · Go to complete Gene record for TGFBR1; Go to Variation Viewer for TGFBR1 variants; Summary. The protein encoded by this gene forms a heteromeric complex with type II TGF-beta receptors when bound to TGF-beta, transducing the TGF-beta signal from the cell surface to the cytoplasm. The encoded protein is a serine/threonine protein kinase.

TGFBR1 mutation Gln-487 has been reported to be associated with thoracic aortic aneurysms and dissection (TAAD) (PubMed:16791849). This phenotype, also known as thoracic aortic aneurysms type 5 (AAT5), is distinguised from LDS1 by having aneurysms restricted to …